RGD:156126243 Rat Genome Database

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Variant: RGD:156126243 -  Homo sapiens

RGD ID: 156126243
ClinVar ID: CV2223662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALNT13  LOC127275038  RPRM  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 154,334,930
GRCh38 2 153,478,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019845.3:c.150C>G
NG_096886.1:g.580G>C
NC_000002.12:g.153478416G>C
NC_000002.11:g.154334930G>C
More... 		11/08/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GALNT13
Accession:NM_001422882
Location:5UTRS;INTRON

Gene Symbol:GALNT13
Accession:NM_001422880
Location:5UTRS;INTRON

Gene Symbol:GALNT13
Accession:NM_001422881
Location:5UTRS;INTRON

Gene Symbol:GALNT13
Accession:NM_001422879
Location:5UTRS;INTRON

Gene Symbol:GALNT13
Accession:NM_001422883
Location:5UTRS;INTRON

Gene Symbol:RPRM
Accession:NM_019845
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPALGNQTDVAGLFLANSSEALERAVRCCTQASVVTDDGFAEGGPDERRLYIMRVVQIAVMCVLSLTVVFGIFFLGCNL
LIKSEGMINFLVKDRRPSKEVEAVVVGPY*

Gene Symbol:GALNT13
Accession:NM_001376398
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376401
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376404
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376403
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376392
Location:INTRON

Gene Symbol:GALNT13
Accession:XM_011510538
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376400
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376405
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001301627
Location:INTRON

Gene Symbol:GALNT13
Accession:XM_047443116
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_052917
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376394
Location:INTRON

Gene Symbol:GALNT13
Accession:XM_047443121
Location:INTRON

Gene Symbol:GALNT13
Accession:NM_001376402
Location:INTRON

Gene Symbol:GALNT13
Accession:XR_007069045
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004093785 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GALNT13 CLINVAR
  RPRM CLINVAR
OMIM 608369 CLINVAR
  612171 CLINVAR